Neuropediatrics 2002; 33(2): 79-85
DOI: 10.1055/s-2002-32372
Original Article

Georg Thieme Verlag Stuttgart · New York

Cerebral White Matter Involvement in Children with Mitochondrial Encephalopathies

I. Moroni1 , M. Bugiani1 , A. Bizzi2 , G. Castelli2 , E. Lamantea3 , G. Uziel1
  • 1 Department of Child Neurology, Istituto Nazionale Neurologico C. Besta, Milano, Italy
  • 2 Department of Neuroradiology, Istituto Nazionale Neurologico C. Besta, Milano, Italy
  • 3 Department of Biochemistry and Medical Genetics, Istituto Nazionale Neurologico C. Besta, Milano, Italy
Further Information

Publication History

Publication Date:
20 June 2002 (online)

Abstract

In childhood mitochondrial encephalopathies the common MRI features are bilateral symmetric abnormalities in basal nuclei and brainstem. The presence of diffuse white matter abnormality has been described only in a few cases. Among a series of 110 children with mitochondrial encephalopathies, 8 patients with MR imaging consistent with a leukoencephalopathy were retrospectively evaluated. Diagnosis was based on the recognition of the biochemical defect in muscle homogenate. H-MR spectroscopic imaging was performed in six of them. Biochemical analysis demonstrated a defect of respiratory chain complexes in six patients: complex I in two cases, complex II in two, complex IV in one, multiple complexes defect in one. Pyruvate dehydrogenase deficiency was demonstrated in two patients. MRI showed severe involvement of the brain white matter without significant basal nuclei or brainstem abnormalities. Two patients developed large cystic areas since onset; in two others progressive vacuolisation of affected white matter was seen later in the course of the disease. One patient with pyruvate dehydrogenase deficiency also presented with a diffuse cortical polymicrogyria. H-MR spectroscopic imaging showed a decrease of N-acetylaspartate, choline and creatine with lactate accumulation in five patients, and was normal in one. These findings suggest that mitochondrial disorders should be included in the differential diagnosis of white matter disorders.

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M. D. Graziella Uziel

Department of Child Neurology, Istituto Nazionale Neurologico C. Besta

Via Celoria 11

20133 Milan

Italy

Email: uziel@istituto-besta.it